A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

Episodic ataxia 2 (EA2) is an autosomal dominant disorder caused by mutations in the gene CACNA1A that encodes the pore-forming CaV2.1 calcium channel subunit. The majority of EA2 mutations reported so far are nonsense or deletion/insertion mutations predicted to form truncated proteins. Heterologou...

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Bibliographic Details
Main Authors: Shehrazade Dahimene, Karen M. Page, Manuela Nieto-Rostro, Wendy S. Pratt, Marianna D'Arco, Annette C. Dolphin
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Neurobiology of Disease
Subjects:
Episodic ataxia-2
P/Q-type calcium channel
Dominant negative suppression
N-terminus
Misfolded protein
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116301231

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http://www.sciencedirect.com/science/article/pii/S0969996116301231

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